Literature DB >> 11565546

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.

A M Payne, A G Morris, S M Downes, S Johnson, A C Bird, A T Moore, S S Bhattacharya, D M Hunt.   

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Year:  2001        PMID： 11565546      PMCID： PMC1734946          DOI： 10.1136/jmg.38.9.611

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  30 in total

Review 1.  GCAP1 mutations associated with autosomal dominant cone dystrophy.

Authors:  Li Jiang; Wolfgang Baehr
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

2.  A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration.

Authors:  Igor V Peshenko; Artur V Cideciyan; Alexander Sumaroka; Elena V Olshevskaya; Alexander Scholten; Seher Abbas; Karl-Wilhelm Koch; Samuel G Jacobson; Alexander M Dizhoor
Journal:  J Biol Chem       Date:  2019-01-08       Impact factor: 5.157

Review 3.  Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion.

Authors:  Sukanya Karan; Jeanne M Frederick; Wolfgang Baehr
Journal:  Mol Cell Biochem       Date:  2009-12-09       Impact factor: 3.396

4.  Gucy2f zebrafish knockdown--a model for Gucy2d-related leber congenital amaurosis.

Authors:  Hadas Stiebel-Kalish; Ehud Reich; Nir Rainy; Gad Vatine; Yael Nisgav; Anna Tovar; Yoav Gothilf; Michael Bach
Journal:  Eur J Hum Genet       Date:  2012-02-29       Impact factor: 4.246

5.  Retinal dystrophies with bull's-eye maculopathy along with negative ERGs.

Authors:  F Nasser; A Kurtenbach; S Kohl; C Obermaier; K Stingl; E Zrenner
Journal:  Doc Ophthalmol       Date:  2019-04-03       Impact factor: 2.379

6.  GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.

Authors:  Feng Jiang; Ke Xu; Xiaohui Zhang; Yue Xie; Fengge Bai; Yang Li
Journal:  Doc Ophthalmol       Date:  2015-08-23       Impact factor: 2.379

7.  Novel variants of ABCA4 in Han Chinese families with Stargardt disease.

Authors:  Fang-Yuan Hu; Feng-Juan Gao; Jian-Kang Li; Ping Xu; Dan-Dan Wang; Sheng-Hai Zhang; Ji-Hong Wu
Journal:  BMC Med Genet       Date:  2020-10-31       Impact factor: 2.103

8.  Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque.

Authors:  K Tyler McCullough; Sanford L Boye; Diego Fajardo; Kaitlyn Calabro; James J Peterson; Christianne E Strang; Dibyendu Chakraborty; Sebastian Gloskowski; Scott Haskett; Steven Samuelsson; Haiyan Jiang; C Douglas Witherspoon; Paul D Gamlin; Morgan L Maeder; Shannon E Boye
Journal:  Hum Gene Ther       Date:  2018-12-20       Impact factor: 5.695

Review 9.  [Genetic causes of hereditary cone and cone-rod dystrophies].

Authors:  S Kohl
Journal:  Ophthalmologe       Date:  2009-02       Impact factor: 1.059

Review 10.  Guanylate cyclases and associated activator proteins in retinal disease.

Authors:  David M Hunt; Prateek Buch; Michel Michaelides
Journal:  Mol Cell Biochem       Date:  2009-11-26       Impact factor: 3.396
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